Canonical Allele Identifier: CA397725246
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127523C>A (hg19) chr17:g.7224204C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224204C>A , CM000679.2:g.7224204C>A GRCh38
NC_000017.10:g.7127523C>A , CM000679.1:g.7127523C>A GRCh37
NC_000017.9:g.7068247C>A NCBI36
NG_007975.1:g.9371C>A
NG_008391.2:g.847G>T
NG_033038.1:g.15341G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1493C>A MANE Select ENSP00000349297.5:p.Ala498Asp
ENST00000322910.9:c.*1448C>A ENSP00000325395.5:n.*1448C>A
ENST00000350303.9:c.1427C>A ENSP00000344152.5:p.Ala476Asp
ENST00000356839.9:c.1493C>A ENSP00000349297.5:p.Ala498Asp
ENST00000542255.6:c.351C>A
ENST00000543245.6:c.1562C>A ENSP00000438689.2:p.Ala521Asp
ENST00000578711.1:n.700C>A
ENST00000579391.1:n.101C>A
ENST00000579425.5:n.609C>A
ENST00000579546.1:c.272-117C>A
ENST00000579894.5:n.280C>A
ENST00000583074.5:n.154-117C>A
ENST00000583850.5:n.268C>A
ENST00000583858.5:c.464-117C>A
ENST00000585203.6:n.684C>A
NM_000018.3:c.1493C>A NP_000009.1:p.Ala498Asp
NM_001033859.2:c.1427C>A NP_001029031.1:p.Ala476Asp
NM_001270447.1:c.1562C>A NP_001257376.1:p.Ala521Asp
NM_001270448.1:c.1265C>A NP_001257377.1:p.Ala422Asp
XM_006721516.2:c.1493C>A XP_006721579.2:p.Ala498Asp
XM_011523829.1:c.1435-117C>A XP_011522131.1:n.1435-117C>A
XM_011523830.1:c.1435-117C>A XP_011522132.1:n.1435-117C>A
XR_934021.1:n.1600C>A
XR_934022.1:n.1542-117C>A
XR_934023.1:n.1542-117C>A
XM_006721516.3:c.1493C>A XP_006721579.2:p.Ala498Asp
XM_011523829.2:c.1435-117C>A XP_011522131.1:n.1435-117C>A
XM_011523830.2:c.1435-117C>A XP_011522132.1:n.1435-117C>A
XM_024450741.1:c.1435-117C>A XP_024306509.1:n.1435-117C>A
XR_934021.2:n.1552C>A
XR_934022.2:n.1494-117C>A
XR_934023.2:n.1494-117C>A
NM_000018.4:c.1493C>A MANE Select NP_000009.1:p.Ala498Asp
NM_001033859.3:c.1427C>A NP_001029031.1:p.Ala476Asp
NM_001270447.2:c.1562C>A NP_001257376.1:p.Ala521Asp
NM_001270448.2:c.1265C>A NP_001257377.1:p.Ala422Asp
Search 100 bp 5'
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